A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112504



Internal ID21295770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30382775..30386193hg38UCSC Ensembl
Innerchr8:30240291..30243709hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg383419
hg193419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1169n145
Supporting Variantsnssv14087494
Samplessample349
Known GenesRBPMS, RBPMS-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112504
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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